Revel Score:
ENST00000406775
0.115
ENST00000342771 (MANE Select)
0.115
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70790632C>T , CM000669.2:g.70790632C>T | GRCh38 |
| NC_000007.13:g.70255618C>T , CM000669.1:g.70255618C>T | GRCh37 |
| NC_000007.12:g.69893554C>T | NCBI36 |
| NG_034133.1:g.1196714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700075.1:c.1342C>T | ENSP00000514784.1:n.1342C>T | |
| ENST00000342771.10:c.3416C>T MANE Select | ENSP00000344087.4:p.Pro1139Leu | |
| ENST00000644359.1:c.1997C>T | ENSP00000494561.1:p.Pro666Leu | |
| ENST00000644506.1:c.2042C>T | ENSP00000496672.1:p.Pro681Leu | |
| ENST00000644939.1:c.3413C>T | ENSP00000496726.1:p.Pro1138Leu | |
| ENST00000647140.1:c.2281C>T | ||
| ENST00000342771.8:c.3416C>T | ENSP00000344087.4:p.Pro1139Leu | |
| ENST00000406775.6:c.3344C>T | ENSP00000385263.2:p.Pro1115Leu | |
| ENST00000611706.4:c.2672C>T | ENSP00000478134.1:p.Pro891Leu | |
| ENST00000615871.4:c.2600C>T | ENSP00000479325.1:p.Pro867Leu | |
| NM_001127231.2:c.3344C>T | NP_001120703.1:p.Pro1115Leu | |
| NM_015570.3:c.3416C>T | NP_056385.1:p.Pro1139Leu | |
| XM_005250257.1:c.2063C>T | XP_005250314.1:p.Pro688Leu | |
| XM_011516010.1:c.3437C>T | XP_011514312.1:p.Pro1146Leu | |
| XM_011516011.1:c.3434C>T | XP_011514313.1:p.Pro1145Leu | |
| XM_011516012.1:c.3371C>T | XP_011514314.1:p.Pro1124Leu | |
| XM_011516013.1:c.3365C>T | XP_011514315.1:p.Pro1122Leu | |
| XM_011516014.1:c.3335C>T | XP_011514316.1:p.Pro1112Leu | |
| XM_011516015.1:c.3173C>T | XP_011514317.1:p.Pro1058Leu | |
| XM_011516016.1:c.3146C>T | XP_011514318.1:p.Pro1049Leu | |
| XM_011516017.1:c.2963C>T | XP_011514319.1:p.Pro988Leu | |
| XM_011516018.1:c.2936C>T | XP_011514320.1:p.Pro979Leu | |
| XM_005250257.2:c.2063C>T | XP_005250314.1:p.Pro688Leu | |
| XM_011516010.2:c.3437C>T | XP_011514312.1:p.Pro1146Leu | |
| XM_011516011.2:c.3434C>T | XP_011514313.1:p.Pro1145Leu | |
| XM_011516012.2:c.3371C>T | XP_011514314.1:p.Pro1124Leu | |
| XM_011516013.2:c.3365C>T | XP_011514315.1:p.Pro1122Leu | |
| XM_011516014.2:c.3335C>T | XP_011514316.1:p.Pro1112Leu | |
| XM_011516017.2:c.2963C>T | XP_011514319.1:p.Pro988Leu | |
| XM_011516018.2:c.2936C>T | XP_011514320.1:p.Pro979Leu | |
| XM_017011951.2:c.*911C>T | XP_016867440.1:n.*911C>T | |
| NM_001127231.3:c.3344C>T | NP_001120703.1:p.Pro1115Leu | |
| NM_015570.4:c.3416C>T MANE Select | NP_056385.1:p.Pro1139Leu |